NM_000249.4(MLH1):c.1643_1649del (p.Tyr548fs) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002403580.2
Allele description [Variation Report for NM_000249.4(MLH1):c.1643_1649del (p.Tyr548fs)]
NM_000249.4(MLH1):c.1643_1649del (p.Tyr548fs)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
putative AAA ATPase [Trypanosoma theileri]
putative AAA ATPase [Trypanosoma theileri]gi|1624756022|ref|XP_028879792.1|Protein
-
Beta-galactosidase [Fulvia fulva]
Beta-galactosidase [Fulvia fulva]gi|2234814121|ref|XP_047758259.1|Protein
-
LOC4334679 [Oryza sativa Japonica Group]
LOC4334679 [Oryza sativa Japonica Group]Gene ID:4334679Gene
-
Conserved Domain Links for Protein (Select 729990) (2)
Conserved Domains
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024